The genotype-phenotype correlation in patients with Parkinson's disease with specific mutations in the glucocerebrosidase gene (Gaucher gene) is known from own clinical experiences as well as from case reports in the literature. The epidemiological study will determine the frequency of heterozygous mutations in the glucocerebrosidase gene and correlate to the clinical onset and development by measuring and documenting severity of symptoms (e.g. cognitive deficits, L-dopa responsiveness, depression) in clinically well-characterized Parkinson's patients.

all adult Patients at 18 years with a confirmed diagnosis of Parkinson's disease

Detailed Description:

Parkinson's disease (also known as Parkinson's, Parkinson disease, or PD) is a degenerative disorder of the central nervous system that impairs motor skills, cognitive processes, and other functions. The most obvious symptoms are motor-related, including tremor, rigidity, slowness of movement, and postural instability. Among non-motor symptoms are autonomic dysfunction and sensory and sleep difficulties. Cognitive and neurobehavioral problems, including dementia, are common in the advanced stages of the disease. PD usually appears around the age of 60, although there are young-onset cases.

Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.

Symptoms of Parkinson's syndrome in classical type 1 Gaucher patients were first systematically described in 1996. In GD patients, a marked heterogeneity is detected in terms of disease-causing mutations. In 17 Gaucher patients with symptoms of Parkinson's disease, 12 different genotypes were sequenced and compared to other Parkinson's patients, a lower L-dopa responsiveness, a higher frequency of cortical dysfunction and a relatively early onset of the symptoms was described. Many of these Gaucher patients with clinical Parkinson's symptoms had a positive family history of Parkinson's disease among relatives with heterozygous mutations in the Gaucher gene that could be confirmed in systematic studies.

Eligibility

Ages Eligible for Study:

18 Years and older

Genders Eligible for Study:

Both

Accepts Healthy Volunteers:

No

Sampling Method:

Probability Sample

Study Population

adult patients with a confirmed diagnosis of Parkinson's disease

Criteria

Inclusion Criteria:

Male or female patients at 18 years old

Patients with confirmed diagnosis of Parkinson's disease

Signed informed consent

Exclusion Criteria:

Male or female patients being younger than 18 years old

Patients without confirmed diagnosis of Parkinson's disease

Missing signed informed consent

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01272687

Locations

Germany

Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin

Bad Neustadt, Germany, 97616

Universitätsklinikum Dresden Klinik für Neurologie

Dresden, Germany, 01307

University of Giessen, Department of Neurology

Giessen, Germany, 35385

Ernst-Moritz-Arndt-University of Greifswald, Department of Neurology

Greifswald, Germany, 17489

Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology

Hamburg, Germany, 20246

Medizinische Hochschule Hannover, Bewegungsstörungsambulanz

Hannover, Germany, 30625

Alexianer Krefeld GmbH, Krankenhaus Maria Hilf

Krefeld, Germany, 47805

Gertrudis-Kliniken im Parkinson-Zentrum

Leun-Biskirchen, Germany, 35638

Neurologischische Arztpraxis

Rostock, Germany, 18057

Universitätsklinikum Rostock, Klinik für Neurologie

Rostock, Germany, 18147

Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen

Sindelfingen, Germany, 71085

HANSE-Klinikum, Department of Neurology

Stralsund, Germany, 18410

University of Ulm, Department of Neurology

Ulm, Germany, 89081

Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie

Wiesbaden, Germany, 65191

Thailand

Chulalongkorn University Hospital

Bangkok, Thailand, 10330

Sponsors and Collaborators

University of Rostock

Investigators

Principal Investigator:

Arndt Rolfs, MD

University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration